PMID: 9179691Mar 1, 1997Paper

Absence of RET proto-oncogene mutations in a father and son with pheochromocytoma and pancreatic islet cell tumor

International Journal of Urology : Official Journal of the Japanese Urological Association
T KawasakiK Takahashi

Abstract

We describe a father and son with a combination of pheochromocytoma and pancreatic islet cell tumor. Although its familial occurrence is rare, this syndrome could be called overlapping-type multiple endocrine neoplasia (MEN), since it fulfills the criteria for both type 1 and type 2 MEN. Recently, germ line mutations of the RET proto-oncogene (RET) were found to be related to tumorigenesis and disease phenotypes in type 2 MEN. Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis, we looked for germ line mutations of RET in 8 members of this family, including the 2 patients. Analysis of RET exons 10, 11 and 16, which contain the hot-spot codons for MEN type 2, revealed no mutations in any individual examined. These findings suggest that these 3 exons in RET are not related to tumorigenesis in overlapping-type MEN.

References

Apr 1, 1980·The American Journal of Medicine·J A CarneyS G Sheps
Feb 15, 1994·Proceedings of the National Academy of Sciences of the United States of America·K M CarlsonH Donis-Keller
Jul 1, 1993·Human Molecular Genetics·H Donis-KellerS A Wells

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Citations

Nov 1, 2005·Cancer·Michelle N ZikusokaIrvin M Modlin

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